Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation

Muscle and Nerve

Volumn 47, Issue 6, 2013, Pages 922-924

  Chaudhry, Rabia ^a   Kidambi, Aditi ^a   Brewer, Megan Hwa ^c   Antonellis, Anthony ^c   Mathews, Katherine ^b   Nicholson, Garth ^a   Kennerson, Marina ^a  

^a ANZAC RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF IOWA   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

BSCL2; CMTX3; Exome sequencing; Marie; Peripheral neuropathy; Tooth disease; X linked Charcot

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BSCL2 GENE; CLINICAL ARTICLE; CMTX3 GENE; EXOME; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MALE; NEXT GENERATION SEQUENCING; PERIPHERAL NEUROPATHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CHARCOT-MARIE-TOOTH DISEASE; EXOME; FEMALE; GTP-BINDING PROTEIN GAMMA SUBUNITS; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84878363737     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23743     Document Type: Article

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